title: Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report.
abstract: Spinal vascular malformations are uncommon lesions, and controversy persists regarding optimal investigation, classification, and treatment strategies. The authors report on a patient with a spinal root arteriovenous malformation (AVM) associated with a parenchymal cavernous malformation (CM) in the same spinal cord segment and describe a complete familial and molecular investigation. This 35-year-old woman presented with symptoms of progressive clinical spastic paraparesis. Magnetic resonance imaging results were suggestive of a spinal cord cavernoma associated with cerebral CMs. Her family history included 2 sisters treated for epilepsy. At surgery an intraspinal root AVM was found at the same level of the cord CM, and both lesions were completely removed. Cerebral gradient echo MR imaging disclosed multiple cavernomas in her relatives, which prompted the molecular diagnosis. On sequence analysis, a novel mutation on the cerebral CM1 (CCM1) gene (c796insA) was found. The authors report on a unique case of familial cerebral CM in which a spinal root AVM was situated next to a cord CM, and discuss the concomitant occurrence of altered nervous system angiogenesis and vasculogenesis.
authors.affiliation: Department of Surgery, Division of Neurosurgery, Hospital Universitario Clementino Fraga Filho. jmarcondes@hucff.ufrj.br
authors.forename: Jorge Marcondes
authors.initials: JM
authors.lastname: De Souza
authors.forename: Flavio S
authors.initials: FS
authors.lastname: Domingues
authors.forename: Leila
authors.initials: L
authors.lastname: Chimelli
authors.forename: Judith
authors.initials: J
authors.lastname: Gault
mesh_terms: D000328:Adult; D001165:Arteriovenous Malformations / Q000150:complications* / Q000601:surgery; D016543:Central Nervous System Neoplasms / Q000150:complications* / Q000235:genetics; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000150:complications* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D020336:Paraparesis, Spastic / Q000209:etiology; D013116:Spinal Cord / Q000002:abnormalities*; D013126:Spinal Nerve Roots / Q000098:blood supply*